Newborn Screening for Hypophosphatasia
| Project/Area Number |
17K10055
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kumamoto University |
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Principal Investigator |
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 新生児スクリーニング / 低ホスファターゼ症 / スクリーニング / 酵素活性 / アルカリホスファターゼ |
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| Outline of Final Research Achievements |
Using DBS blood for hypophosphatasia (n = 10,777, consent rate 96%), TNSALP activity distribution showed distribution around the average value of 752.1 pmol/hr/disk. As a result of cut off value less than 300 pmol/hr/disk, 11 re-tests needed (11/10,777 = 0.10%), and no precision required. Newborns with low alkaline phosphatase levels were found to be biochemical. It is considered that appropriate diagnosis, treatment timing and disease outline can be clarified by performing definitive diagnosis by performing alkaline phosphatase measurement, phosphoethanolamine measurement, and gene analysis.
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| Academic Significance and Societal Importance of the Research Achievements |
低ホスファターゼ症に関して、新生児10,777人を対象としたスクリーニングのパイロット県有をおこなった。同意率は約 96%であり、TNSALP酵素活性は平均値752.1pmol/hr/diskを中心に上下になだらかな濃度分布を示した。カットオフを300pmol/hr/disk未満で疾患であるかどうかを判別した結果、再採血が11例発生し、再採血率は11/10,777=0.10%であり、要精密検体は発生していない。発見されたアルカリホスファターゼ低値の新生児は、遺伝子解析などをおこなうことで確定診断が可能となる。
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Report
(4 results)
Research Products
(26 results)
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[Journal Article] Newborn screening for Fabry disease in the western region of Japan.2020
Author(s)
Sawada T, Kido J, Yoshida S, Sugawara K, Momosaki K, Inoue T, Tajima G, Sawada H, Mastumoto S, Endo F, Hirose S, Nakamura K.
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Journal Title
Mol Genet Metab Rep.
Volume: 22
Pages: 100562-100562
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.2019
Author(s)
Momosaki K, Kido J, Yoshida S, Sugawara K, Miyamoto T, Inoue T, Okumiya T, Matsumoto S, Endo F, Hirose S, Nakamura K.
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Journal Title
J Hum Genet.
Volume: 64
Issue: 8
Pages: 741-755
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] LSD1 mediates metabolic reprogramming by glucocorticoids during myogenic differentiation2018
Author(s)
K. Anan, S. Hino, N. Shimizu, A. Sakamoto, K. Nagaoka, R. Takase, K. Kohrogi, H. Araki, Y. Hino, S. Usuki, S. Oki, H. Tanaka, K. Nakamura, F. Endo, and M. Nakao
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Journal Title
Nucleic Acids Res.
Volume: 18
Issue: 11
Pages: 5441-5454
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement2017
Author(s)
Kishnani P*, Hwu WL, Atherton A, Bodamer Olaf, Burton B, Day-Salvatore D, Giugliani R, Jones S, Kronn David, Nakamura K, Okuyama T, Scott C, Swoboda K
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Journal Title
Pediatrics
Volume: 140
Issue: Supplement_1
Pages: S1-S3
DOI
Related Report
Peer Reviewed
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